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MetabolomicsSex differences modulate blood metabolome profiles in Parkinson’s disease patients harbouring rare genetic variants

Background: Recent findings from our group indicate that sex differences in Parkinson's disease (PD) patients with idiopathic conditions or carrying pathogenic mutations significantly influence the blood occurrence of D and L-amino acids, lipids, antioxidants, and energy-related metabolites when ...

2026-06-26 | MTBLS12746 | MetaboLights
MetabolomicsMetabolite Correlation Networks Reveal Complex Phenotypes of Adaptation-Driving Mutations

Living organisms are organized into hierarchical levels of increasing complexity. As mutational effects propagate through these levels, multiple phenotypes are produced. However, identifying which phenotypes influence fitness and drive selection remains a key challenge in understanding genotype-p...

2026-08-10 | MTBLS14569 | MetaboLights
MetabolomicsGenome-wide mapping of genetic suppression events in Streptococcus pneumoniae
Historically, suppressor analysis has been a powerful tool for uncovering the functions of essential genes. In this study, we report Sup-seq, a transposon-sequencing technique with random DNA barcodes that enables genome-wide detection of genetic suppression. When applied to seven essential genes in...
2026-09-01 | MTBLS15113 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13116 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13111 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13127 | MetaboLights
MetabolomicsSex differences modulate the serum metabolome profiles in Parkinson’s disease patients harbouring pathogenic mutations in GBA1, LRRK2, TMEM175, PARK2, PINK1, and PARK7 genes

Background: Sex and genetic background have an impact on Parkinson’s disease (PD) insurgence, but the comprehension of how these factors affect the circulating profile of PD patients is still an aim of study.

Objectives: In this study we aimed to investigate whether genetic background and ...

2026-06-26 | MTBLS12753 | MetaboLights
MetabolomicsFunctional nutrient-genetic profiling reveals biotin and FBXW7 are essential to bypass glutamine addiction

Metabolic flexibility is key to survival and growth in all living organisms. In mammals, the pathways supporting cell proliferation in nutrient-limiting conditions have not been fully elucidated, although certain tumors display metabolic dependencies that can be targeted for therapy. He...

2026-02-02 | MTBLS13799 | MetaboLights
ModelsFassoni2019 - Oncogenesis encompassing mutations and genetic instability
This model describes the multistep process that transform a normal cell and its descendants into a malignant tumour by considering three populations: normal, premalignant and cancer cells. Created by COPASI 4.24(Build 197) Abstract: Tumorigenesis has been described as a multistep process, where each...
2024-09-02 | BIOMD0000000807 | BioModels
TranscriptomicsPenetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
This SuperSeries is composed of the following subset Series: GSE35551: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (1) GSE35552: Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturb...
ORGANISM(S): Homo sapiens 
2012-04-04 | E-GEOD-35554 | biostudies-arrayexpress
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